RANGAP1, Ran GTPase activating protein 1, 5905

N. diseases: 49; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 AlteredExpression group BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C0221269
Disease: Pseudolymphoma
Pseudolymphoma
0.010 Biomarker disease BEFREE Immunostaining showed that the majority of DLBCLs (92%, 46/50) were RanGAP1(+), while reactive lymphoid hyperplasia (n = 12) was RanGAP1(+) predominantly in germinal centers. 24223200 2013
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C0855146
Disease: B Lymphoblastic Lymphoma
B Lymphoblastic Lymphoma
0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 Biomarker disease BEFREE Ran GTPase-activating protein 1 is a therapeutic target in diffuse large B-cell lymphoma. 24223200 2013
CUI: C1332212
Disease: Adult B Lymphoblastic Lymphoma
Adult B Lymphoblastic Lymphoma
0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C1332996
Disease: Childhood B Lymphoblastic Lymphoma
Childhood B Lymphoblastic Lymphoma
0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease
0.010 GeneticVariation disease BEFREE Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). 18286225 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 Biomarker disease BEFREE These results indicate that antioxidant defence is altered in the schizophrenic hippocampus and suggest that segregation distortion, of schizophrenia susceptibility genes, may be a possible causative factor in the high incidence of schizophrenia.Molecular Psychiatry (2000) 5, 85-90. 10673773 2000
Immunoglobulin A deficiency (disorder)
0.010 GeneticVariation disease BEFREE Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition. 10090895 1999
CUI: C0221373
Disease: Claw hand
Claw hand
0.010 GeneticVariation disease BEFREE Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. 10330351 1999
CUI: C0432028
Disease: Split foot
Split foot
0.010 GeneticVariation disease BEFREE Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. 10330351 1999
Dentatorubral-Pallidoluysian Atrophy
0.010 GeneticVariation disease BEFREE However, the segregation ratio of single sperm with an expanded allele to ones with a normal allele is not statistically different ( P = 0.161) from the expected 1:1 segregation ratio, and thus segregation distortion of expanded alleles in meiosis in male patients with DRPLA was not demonstrated. 9949204 1999
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities
0.010 Biomarker disease BEFREE FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability. 9435259 1998
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
0.010 Biomarker disease BEFREE Segregation distortion in the offspring of Afro-American fathers with postaxial polydactyly. 7726178 1995
CUI: C0339530
Disease: Progressive cone-rod dystrophy
Progressive cone-rod dystrophy
0.010 GeneticVariation disease BEFREE Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. 8162077 1994
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
0.010 Biomarker disease BEFREE Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. 8162077 1994
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.010 Biomarker disease BEFREE Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. 8162077 1994
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
0.010 Biomarker disease BEFREE Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. 8162077 1994
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 Biomarker disease BEFREE Single sperm typing can address questions about segregation distortion in man, and it is unlikely that sex ratio distortion for CF carriers is due to events which occur pre-fertilisation. 7684944 1993